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Newborn screening in the Middle East and North Africa – challenges and recommendations

Rabah M Shawky
Published in : HAMDAN MEDICAL JOURNAL ; Vol 5, No 3 (2012)
DOI : 10.7707/hmj.v5i3.192

Abstract


Newborn screening (NBS) is the practice of testing every newborn for treatable genetic, metabolic, endocrinological and haematological disorders.1 This will prevent developmental delay, mental retardation and death of infants.2 A comprehensive NBS programme begins with the test itself and with its reliability. Laboratories, paediatricians and parents must be confident that the test results are accurate and that disorders are not missed. Additionally, NBS is not only a test but also a comprehensive system of education, screening, follow-up, diagnosis, treatment or management and evaluation that must be institutionalized and sustained within public health systems.3

The region of the Middle East and North Africa (MENA) consists of 21 countries and the population of the region is about 400 million, with an estimated 10 million newborns per year.4 There is significant diversity between the countries in relation to population size, per capita income, health system, insurance coverage and differences in the stages of epidemiological transition.5 Because the population in the region is characterized by high rates of consanguinity and first cousin marriages,6 genetic disorders are relatively common.7

Some MENA countries have not begun NBS. Implementation of a pilot NBS programme is their primary goal. These countries include Libya, Morocco, Syrian Arab Republic, Yemen and Algeria. Other countries have completed pilot studies for at least one condition and anticipate expansion to national programmes. These include Jordan, Kuwait, Lebanon, Pakistan and Tunisia. The third group screen for at least one condition, primarily congenital hypothyroidism, and most screen for two or more conditions. These countries include Bahrain, Egypt, Palestinian Territory (Occupied), Oman, Qatar, Saudi Arabia and United Arab Emirates.5

The introduction of tandem mass spectrometry (MS/MS) has been unquestionably the most recent advance in newborn screening. A single test is applied for the simultaneous diagnosis of a number of disorders (> 50)8 and it can also screen for some disorders that might otherwise have been assumed to be rare.9

The classical principle in NBS is to screen only if you can effectively treat. However, with the advent of MS/MS as the testing method the concept of benefit has been broadened to justify testing for conditions with no known cure but for which there are treatment options that improve the prognosis, for example in the case of cystic fibrosis. It also can identify diseases for which no treatment is available in order to give a diagnosis, detect carriers and provide information to parents about reproductive risks for family planning decisions.10,11 National MS/MS NBS is available in Qatar and Saudi Arabia. Private MS/MS is available in Lebanon,5 while in Egypt it is available in some universities.

There is no doubt that the MENA region lags behind many other countries where neonatal screening is concerned. Overall, NBS in this region is developing slowly and faces many challenges. These challenges are not only infrastructural, but also political, ethical and logistical.4 The challenges include planning, leadership support, education, protocol or policy development, administration, evaluation and sustainability.3 Geographical challenges are substantial, as large distances and isolation may limit accessibility for screening the entire newborn population of the area. Development of sustainable financing, availability of formulas and other nutritional supplements for management are also met with difficulty.

The following steps are recommended in the MENA region:

1 All countries in the region should declare screening for at least one condition. Screening programmes should also be expanded, starting in the advanced academic institutions, as is done by large universities in Egypt.12,13 The expansion should include not only treatable disorders, but also non-treatable ones. NBS should be mandatory for treatable disorders and voluntary for non-treatable ones.

2 Regional co-operation in training and research among countries could occur through sharing expertise, information and other resources. Some countries can also enter into partnership both within and outside the region, for example Qatar with the University of Heidelberg in Germany.4

3 Develop national registry and communication systems that would link children identified through screening with treatment providers for management of long-term and follow-up care.

4 A central NBS organization should be established in the region for surveillance of rare conditions and regulation of NBS programmes across the region. This should also have the capabilities to provide training for health professionals.

5 Some well-established NBS programmes manage to find the funds and acquire the expertise to initiate expansion, even on a pilot basis. Other less developed programmes should join with more advanced ones in the region to offer expansion.

6 Stimulate regional research capacity that addresses the conditions specific to the Middle East and North Africa.15

7 NBS is cost-effective and every newborn in this region deserves access to NBS, diagnosis, treatment and the best quality of life.

8 Parents, paediatric health-care providers and policy makers should be educated about available comprehensive NBS.

9 We hope that in the next 5–10 years each country in this region will develop its infrastructure and establish a system of national NBS programmes.


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